Incidental Mutation 'IGL03149:Xpo5'
| ID |
411043 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Xpo5
|
| Ensembl Gene |
ENSMUSG00000067150 |
| Gene Name |
exportin 5 |
| Synonyms |
Exp5, 2410004H11Rik, 2700038C24Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03149
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
46513737-46554524 bp(+) (GRCm39) |
| Type of Mutation |
splice site (6 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 46526740 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084257
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087031]
|
| AlphaFold |
Q924C1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000087031
|
| SMART Domains |
Protein: ENSMUSP00000084257
Gene: ENSMUSG00000067150
| Domain | Start | End | E-Value | Type |
|---|
|
IBN_N
|
33 |
100 |
6.73e-3 |
SMART |
|
Pfam:Xpo1
|
109 |
271 |
1.4e-34 |
PFAM |
|
low complexity region
|
326 |
342 |
N/A |
INTRINSIC |
|
low complexity region
|
770 |
779 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the karyopherin family that is required for the transport of small RNAs and double-stranded RNA-binding proteins from the nucleus to the cytoplasm. The encoded protein translocates cargo through the nuclear pore complex in a RanGTP-dependent process. [provided by RefSeq, Aug 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap10 |
A |
G |
8: 78,136,167 (GRCm39) |
|
probably benign |
Het |
| Arhgap42 |
A |
G |
9: 9,008,085 (GRCm39) |
I546T |
possibly damaging |
Het |
| Arsj |
A |
T |
3: 126,233,053 (GRCm39) |
|
probably benign |
Het |
| Ash2l |
A |
G |
8: 26,308,650 (GRCm39) |
V543A |
probably benign |
Het |
| B4galnt3 |
A |
G |
6: 120,208,555 (GRCm39) |
|
probably benign |
Het |
| Blvra |
T |
A |
2: 126,924,871 (GRCm39) |
V11E |
probably damaging |
Het |
| Calcb |
T |
C |
7: 114,319,371 (GRCm39) |
L51P |
probably damaging |
Het |
| Cd36 |
T |
A |
5: 18,025,563 (GRCm39) |
K52N |
probably benign |
Het |
| Cebpz |
T |
C |
17: 79,229,982 (GRCm39) |
N857S |
probably benign |
Het |
| Ces1b |
A |
G |
8: 93,791,502 (GRCm39) |
|
probably benign |
Het |
| Clspn |
T |
C |
4: 126,470,295 (GRCm39) |
|
probably benign |
Het |
| Cr2 |
A |
T |
1: 194,848,674 (GRCm39) |
L283H |
probably damaging |
Het |
| Ctc1 |
T |
C |
11: 68,921,987 (GRCm39) |
V811A |
possibly damaging |
Het |
| Ctsk |
T |
C |
3: 95,408,730 (GRCm39) |
S65P |
possibly damaging |
Het |
| Ddx51 |
A |
G |
5: 110,801,600 (GRCm39) |
N83D |
probably benign |
Het |
| Eci2 |
T |
C |
13: 35,172,296 (GRCm39) |
T146A |
probably benign |
Het |
| Erbin |
T |
C |
13: 103,977,671 (GRCm39) |
N629D |
possibly damaging |
Het |
| Etfbkmt |
A |
G |
6: 149,045,781 (GRCm39) |
E45G |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 39,045,834 (GRCm39) |
N3951S |
probably damaging |
Het |
| Fktn |
T |
C |
4: 53,744,653 (GRCm39) |
V311A |
probably benign |
Het |
| Garem1 |
G |
T |
18: 21,264,523 (GRCm39) |
P534T |
probably damaging |
Het |
| Gm8237 |
A |
G |
14: 5,864,451 (GRCm38) |
I37T |
probably benign |
Het |
| Ikzf5 |
T |
C |
7: 130,998,494 (GRCm39) |
K13E |
probably damaging |
Het |
| Kl |
T |
A |
5: 150,906,200 (GRCm39) |
C523* |
probably null |
Het |
| Klhl7 |
G |
A |
5: 24,364,687 (GRCm39) |
V574I |
probably benign |
Het |
| Lyst |
T |
C |
13: 13,856,029 (GRCm39) |
V2450A |
probably benign |
Het |
| Map3k6 |
A |
T |
4: 132,976,999 (GRCm39) |
I819F |
probably damaging |
Het |
| Mphosph9 |
T |
C |
5: 124,401,074 (GRCm39) |
E891G |
probably damaging |
Het |
| Myo7b |
A |
G |
18: 32,147,355 (GRCm39) |
S63P |
probably damaging |
Het |
| Ndufaf7 |
C |
T |
17: 79,252,439 (GRCm39) |
R283C |
possibly damaging |
Het |
| Nepro |
G |
T |
16: 44,547,462 (GRCm39) |
A60S |
probably damaging |
Het |
| Nop56 |
T |
C |
2: 130,119,445 (GRCm39) |
S354P |
probably damaging |
Het |
| Nwd2 |
T |
A |
5: 63,963,338 (GRCm39) |
L974H |
probably damaging |
Het |
| Or4a80 |
T |
C |
2: 89,583,172 (GRCm39) |
|
probably null |
Het |
| Or52ad1 |
A |
T |
7: 102,996,056 (GRCm39) |
H26Q |
probably benign |
Het |
| Pacsin3 |
T |
A |
2: 91,091,852 (GRCm39) |
|
probably benign |
Het |
| Parp12 |
C |
T |
6: 39,091,165 (GRCm39) |
D142N |
probably benign |
Het |
| Pcdh15 |
G |
A |
10: 74,466,527 (GRCm39) |
D1449N |
probably damaging |
Het |
| Pcsk7 |
C |
T |
9: 45,820,778 (GRCm39) |
T70M |
probably benign |
Het |
| Pld4 |
T |
C |
12: 112,733,263 (GRCm39) |
F280L |
probably benign |
Het |
| Ppm1k |
C |
A |
6: 57,501,759 (GRCm39) |
A135S |
probably damaging |
Het |
| Prkcq |
A |
T |
2: 11,237,356 (GRCm39) |
Y45F |
probably benign |
Het |
| Prom1 |
T |
A |
5: 44,187,076 (GRCm39) |
I385F |
probably damaging |
Het |
| Prss12 |
A |
G |
3: 123,299,036 (GRCm39) |
N603D |
probably benign |
Het |
| Ptbp2 |
G |
T |
3: 119,514,074 (GRCm39) |
T501K |
possibly damaging |
Het |
| Ranbp17 |
C |
A |
11: 33,193,183 (GRCm39) |
R957L |
possibly damaging |
Het |
| Rasl10a |
T |
C |
11: 5,008,429 (GRCm39) |
Y42H |
possibly damaging |
Het |
| Serpina9 |
G |
A |
12: 103,974,869 (GRCm39) |
Q95* |
probably null |
Het |
| Serpinb1b |
C |
A |
13: 33,269,275 (GRCm39) |
Q3K |
possibly damaging |
Het |
| Sgo2b |
T |
A |
8: 64,379,617 (GRCm39) |
M1072L |
probably benign |
Het |
| Slc1a5 |
T |
C |
7: 16,523,745 (GRCm39) |
V250A |
probably damaging |
Het |
| Slc30a6 |
T |
C |
17: 74,730,018 (GRCm39) |
S303P |
probably damaging |
Het |
| Tbc1d2 |
A |
T |
4: 46,637,619 (GRCm39) |
I209N |
probably benign |
Het |
| Tmc4 |
T |
A |
7: 3,670,177 (GRCm39) |
I484L |
probably benign |
Het |
| Ttll5 |
G |
A |
12: 85,965,758 (GRCm39) |
E36K |
probably damaging |
Het |
| Unc93b1 |
A |
G |
19: 3,994,041 (GRCm39) |
M391V |
probably benign |
Het |
|
| Other mutations in Xpo5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00341:Xpo5
|
APN |
17 |
46,535,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00650:Xpo5
|
APN |
17 |
46,519,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00785:Xpo5
|
APN |
17 |
46,515,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01869:Xpo5
|
APN |
17 |
46,553,133 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL01929:Xpo5
|
APN |
17 |
46,513,855 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02433:Xpo5
|
APN |
17 |
46,550,446 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02550:Xpo5
|
APN |
17 |
46,540,255 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL02637:Xpo5
|
APN |
17 |
46,546,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02942:Xpo5
|
APN |
17 |
46,519,059 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03004:Xpo5
|
APN |
17 |
46,518,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03296:Xpo5
|
APN |
17 |
46,532,320 (GRCm39) |
nonsense |
probably null |
|
|
fortify
|
UTSW |
17 |
46,532,347 (GRCm39) |
missense |
probably benign |
0.01 |
|
fortissimo
|
UTSW |
17 |
46,546,896 (GRCm39) |
missense |
probably benign |
0.36 |
|
PIT4403001:Xpo5
|
UTSW |
17 |
46,550,495 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0009:Xpo5
|
UTSW |
17 |
46,515,712 (GRCm39) |
splice site |
probably benign |
|
|
R0009:Xpo5
|
UTSW |
17 |
46,515,712 (GRCm39) |
splice site |
probably benign |
|
|
R0035:Xpo5
|
UTSW |
17 |
46,551,101 (GRCm39) |
missense |
probably benign |
|
|
R0276:Xpo5
|
UTSW |
17 |
46,552,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0626:Xpo5
|
UTSW |
17 |
46,532,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0843:Xpo5
|
UTSW |
17 |
46,533,576 (GRCm39) |
splice site |
probably benign |
|
|
R1440:Xpo5
|
UTSW |
17 |
46,518,853 (GRCm39) |
splice site |
probably benign |
|
|
R1506:Xpo5
|
UTSW |
17 |
46,538,814 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1513:Xpo5
|
UTSW |
17 |
46,537,906 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2060:Xpo5
|
UTSW |
17 |
46,536,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2258:Xpo5
|
UTSW |
17 |
46,551,822 (GRCm39) |
nonsense |
probably null |
|
|
R2259:Xpo5
|
UTSW |
17 |
46,551,822 (GRCm39) |
nonsense |
probably null |
|
|
R2260:Xpo5
|
UTSW |
17 |
46,551,822 (GRCm39) |
nonsense |
probably null |
|
|
R2263:Xpo5
|
UTSW |
17 |
46,541,269 (GRCm39) |
missense |
probably benign |
|
|
R3016:Xpo5
|
UTSW |
17 |
46,531,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3149:Xpo5
|
UTSW |
17 |
46,553,173 (GRCm39) |
splice site |
probably null |
|
|
R3150:Xpo5
|
UTSW |
17 |
46,553,173 (GRCm39) |
splice site |
probably null |
|
|
R4613:Xpo5
|
UTSW |
17 |
46,547,889 (GRCm39) |
missense |
probably benign |
|
|
R4784:Xpo5
|
UTSW |
17 |
46,533,643 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R4808:Xpo5
|
UTSW |
17 |
46,546,896 (GRCm39) |
missense |
probably benign |
0.36 |
|
R4981:Xpo5
|
UTSW |
17 |
46,531,743 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5159:Xpo5
|
UTSW |
17 |
46,528,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5286:Xpo5
|
UTSW |
17 |
46,545,406 (GRCm39) |
missense |
probably benign |
|
|
R5294:Xpo5
|
UTSW |
17 |
46,547,848 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5550:Xpo5
|
UTSW |
17 |
46,545,418 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5750:Xpo5
|
UTSW |
17 |
46,529,556 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5774:Xpo5
|
UTSW |
17 |
46,552,772 (GRCm39) |
nonsense |
probably null |
|
|
R5921:Xpo5
|
UTSW |
17 |
46,532,347 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6165:Xpo5
|
UTSW |
17 |
46,546,883 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6576:Xpo5
|
UTSW |
17 |
46,551,734 (GRCm39) |
splice site |
probably null |
|
|
R7244:Xpo5
|
UTSW |
17 |
46,525,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7414:Xpo5
|
UTSW |
17 |
46,532,295 (GRCm39) |
missense |
probably benign |
|
|
R7737:Xpo5
|
UTSW |
17 |
46,547,016 (GRCm39) |
splice site |
probably null |
|
|
R8144:Xpo5
|
UTSW |
17 |
46,519,145 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8752:Xpo5
|
UTSW |
17 |
46,547,838 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R8882:Xpo5
|
UTSW |
17 |
46,538,666 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9370:Xpo5
|
UTSW |
17 |
46,546,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0019:Xpo5
|
UTSW |
17 |
46,545,470 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0062:Xpo5
|
UTSW |
17 |
46,541,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Xpo5
|
UTSW |
17 |
46,531,688 (GRCm39) |
missense |
probably benign |
0.11 |
|
Z1177:Xpo5
|
UTSW |
17 |
46,536,050 (GRCm39) |
missense |
probably benign |
0.32 |
|
| Posted On |
2016-08-02 |
Incidental Mutation